Results 31 to 40 of about 191,947 (264)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Retinopathy of prematurity in extremely premature infants: multiplebirths versus single births

TURKISH JOURNAL OF MEDICAL SCIENCES, 2018
Background/aim: This study aimed to compare the incidence of any stage of retinopathy of prematurity (ROP) and type 1 ROP between extremely preterm multiple- and single-birth infants. Materials and methods: In this retrospective study, we included extremely preterm infants who were ≤27 weeks of gestational age at birth.
Baş, AHMET YAĞMUR, Petriçli, İkbal Seza, Kara, Caner, Ulubaş Işik, Dilek, Demirel, NİHAL   +4 more
openaire   +3 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Fetal, infant, and childhood growth and adult blood pressure: a longitudinal study from birth to 22 years of age

, 2002
Background: people who are small at birth tend to have higher blood pressure in later life. However, it is not clear whether it is fetal growth restriction or the accelerated postnatal growth that often follows it that leads to higher blood pressure ...
Shinebourne, EA, Syddall, H.E., Law, CM, Fayers, PM, A.W. Shiell, E.A. Shinebourne, Shinebourne, E.A., Shiell, AW, C.M. Law, Newsome, C.A., Martyn, C.N., M. de Swiet, Newsome, CA, Martyn, CN, de Swiet, M, H.E. Syddall, P.M. Fayers, C.N. Martyn, Syddall, HE, De Swiet, M., Fayers, P.M., C.A. Newsome, Law, C.M., Shiell, A.W.   +23 more
core   +1 more source

Evaluating Energy Absorption Performance of Filled Lattice Structures

Advanced Engineering Materials, EarlyView.
Maximum stress must be considered to robustly evaluate energy absorber designs. This approach was applied to compare all types of absorbers in a single Ashby diagram and determine the utility of filling lattice voids with a second material. High‐performance fillers can improve the performance of lattices that are limited by buckling or catastrophic ...
Christian Bonney, William P. King, Iwona Jasiuk   +2 more
wiley   +1 more source

ASSESSMENT OF RISK FACTORS OF PREMATURE BIRTH

, 2019
Objective: Assessment of the significance of possible etiological factors in the development of early-premature birth in the Udmurt Republic. Methods: The main monitoring group consisted of 94 women with extremely early premature birth, the comparison
I.E. MAKSIMOV, A.E. SHKLYAEV, M.V. SEMYONOVA, A.S. LYALINA   +3 more
core   +1 more source

Performance Analysis of Abradable Coating Systems for Aircraft Gas Turbines

Advanced Engineering Materials, EarlyView.
Three CoNiCrAlY/YSZ/MgAl2O4 abradable liner configurations on a nickel‐superalloy are evaluated by thermal‐gradient cycling and incursion tests. Laser ablation of the bondcoat and/or Y2O3‐stabilized ZrO2 (YSZ) intermediate layer increases mechanical interlocking and bonding for thick topcoats.
Hanna Heyl, Daniel Emil Mack, Martin Tandler, Susanne Schrüfer, Robert Vaßen   +4 more
wiley   +1 more source

Maternal Stressor Agents with Premature Infants in Neonatal Intensive Care Units [PDF]

Introduction: Birth of a premature infant is associated with separation from family and hospitalizationActually, parents would undergo a lot of stress. The present study aimed to determine stressor agents of the mothers with premature infants admitted ...
مهرنوش, نسرین, سیدفاطمی, نعیمه, حقانی, حمید, بریم نژاد, لیلی   +3 more
core